Incidental Mutation 'R1505:Vwce'
ID |
169143 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwce
|
Ensembl Gene |
ENSMUSG00000043789 |
Gene Name |
von Willebrand factor C and EGF domains |
Synonyms |
1300015B04Rik |
MMRRC Submission |
040868-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R1505 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
10611582-10643577 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10641608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 778
(H778R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025647]
[ENSMUST00000055115]
|
AlphaFold |
Q3U515 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025647
|
SMART Domains |
Protein: ENSMUSP00000025647 Gene: ENSMUSG00000024738
Domain | Start | End | E-Value | Type |
Pfam:A1_Propeptide
|
16 |
44 |
1.1e-13 |
PFAM |
Pfam:Asp
|
73 |
386 |
1.1e-112 |
PFAM |
Pfam:TAXi_N
|
74 |
229 |
7.6e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000055115
AA Change: H778R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000056958 Gene: ENSMUSG00000043789 AA Change: H778R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
EGF
|
70 |
98 |
2.2e1 |
SMART |
EGF_CA
|
142 |
180 |
6.91e-9 |
SMART |
EGF_CA
|
181 |
219 |
7.75e-12 |
SMART |
EGF_CA
|
220 |
262 |
1.11e-12 |
SMART |
low complexity region
|
294 |
312 |
N/A |
INTRINSIC |
low complexity region
|
335 |
353 |
N/A |
INTRINSIC |
VWC
|
378 |
432 |
2.91e-6 |
SMART |
VWC
|
435 |
488 |
4.58e-4 |
SMART |
VWC
|
493 |
551 |
2.06e-6 |
SMART |
VWC
|
560 |
617 |
9.74e-8 |
SMART |
VWC
|
621 |
676 |
1.35e-10 |
SMART |
VWC
|
679 |
725 |
2.58e-1 |
SMART |
low complexity region
|
761 |
772 |
N/A |
INTRINSIC |
low complexity region
|
889 |
903 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
T |
A |
5: 105,099,431 (GRCm39) |
R444W |
probably damaging |
Het |
Adnp |
A |
G |
2: 168,025,661 (GRCm39) |
S545P |
possibly damaging |
Het |
Ankrd17 |
T |
C |
5: 90,447,885 (GRCm39) |
R219G |
possibly damaging |
Het |
Ap2m1 |
C |
G |
16: 20,361,447 (GRCm39) |
P372A |
probably benign |
Het |
Calml3 |
T |
A |
13: 3,854,071 (GRCm39) |
T45S |
probably benign |
Het |
Casp8 |
A |
G |
1: 58,868,081 (GRCm39) |
E174G |
probably damaging |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Cfap221 |
A |
C |
1: 119,881,358 (GRCm39) |
L368R |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,733,123 (GRCm39) |
|
probably null |
Het |
Cnot1 |
A |
T |
8: 96,455,295 (GRCm39) |
I2035N |
probably damaging |
Het |
Cyp2c67 |
T |
C |
19: 39,637,408 (GRCm39) |
R23G |
probably benign |
Het |
Dnah10 |
A |
C |
5: 124,831,303 (GRCm39) |
H777P |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam162b |
G |
A |
10: 51,463,298 (GRCm39) |
A123V |
probably damaging |
Het |
Golgb1 |
T |
A |
16: 36,740,005 (GRCm39) |
N2781K |
possibly damaging |
Het |
Hs2st1 |
C |
A |
3: 144,140,322 (GRCm39) |
R333L |
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,705,533 (GRCm39) |
H1319R |
probably null |
Het |
Necab1 |
A |
T |
4: 14,960,047 (GRCm39) |
M300K |
probably benign |
Het |
Ntrk3 |
T |
A |
7: 78,110,272 (GRCm39) |
I321F |
probably damaging |
Het |
Or5p60 |
A |
G |
7: 107,724,200 (GRCm39) |
V90A |
probably benign |
Het |
Or7e169 |
A |
T |
9: 19,757,084 (GRCm39) |
M277K |
probably benign |
Het |
Or8g52 |
A |
G |
9: 39,630,774 (GRCm39) |
N84D |
probably damaging |
Het |
Or8k41 |
A |
T |
2: 86,313,557 (GRCm39) |
H176Q |
possibly damaging |
Het |
Osbpl6 |
T |
C |
2: 76,409,586 (GRCm39) |
S483P |
probably damaging |
Het |
Pcdhb17 |
A |
C |
18: 37,619,875 (GRCm39) |
N555T |
probably damaging |
Het |
Pdgfc |
G |
A |
3: 81,116,543 (GRCm39) |
R299H |
possibly damaging |
Het |
Ptpn7 |
A |
T |
1: 135,062,302 (GRCm39) |
T83S |
probably benign |
Het |
Rapgef5 |
T |
C |
12: 117,652,354 (GRCm39) |
V79A |
possibly damaging |
Het |
Rexo5 |
T |
A |
7: 119,398,826 (GRCm39) |
C54* |
probably null |
Het |
Riok3 |
A |
G |
18: 12,285,935 (GRCm39) |
K418R |
probably benign |
Het |
Robo4 |
G |
A |
9: 37,314,523 (GRCm39) |
G170D |
probably damaging |
Het |
Rpl8 |
A |
G |
15: 76,788,610 (GRCm39) |
D33G |
possibly damaging |
Het |
Rspo2 |
T |
C |
15: 42,939,239 (GRCm39) |
T184A |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,569,478 (GRCm39) |
M4942K |
possibly damaging |
Het |
Sel1l |
T |
C |
12: 91,780,736 (GRCm39) |
Y585C |
probably damaging |
Het |
Slc25a11 |
G |
T |
11: 70,537,650 (GRCm39) |
D13E |
probably benign |
Het |
Slc5a6 |
G |
T |
5: 31,194,455 (GRCm39) |
H584N |
probably benign |
Het |
Snrpf |
A |
G |
10: 93,419,381 (GRCm39) |
V69A |
possibly damaging |
Het |
Sorbs3 |
T |
A |
14: 70,428,251 (GRCm39) |
K475* |
probably null |
Het |
Speg |
G |
A |
1: 75,352,186 (GRCm39) |
V35I |
probably benign |
Het |
Tlk2 |
T |
G |
11: 105,151,121 (GRCm39) |
V468G |
probably damaging |
Het |
Trim6 |
T |
A |
7: 103,881,771 (GRCm39) |
W341R |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,926,184 (GRCm39) |
I326N |
probably damaging |
Het |
Vipas39 |
T |
C |
12: 87,292,934 (GRCm39) |
Y318C |
probably damaging |
Het |
Vmn1r185 |
T |
A |
7: 26,310,903 (GRCm39) |
I201F |
probably damaging |
Het |
Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
|
Other mutations in Vwce |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00429:Vwce
|
APN |
19 |
10,641,875 (GRCm39) |
splice site |
probably null |
|
IGL01358:Vwce
|
APN |
19 |
10,641,773 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02330:Vwce
|
APN |
19 |
10,624,165 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02477:Vwce
|
APN |
19 |
10,641,982 (GRCm39) |
splice site |
probably null |
|
IGL02551:Vwce
|
APN |
19 |
10,622,400 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02606:Vwce
|
APN |
19 |
10,632,712 (GRCm39) |
splice site |
probably benign |
|
IGL02633:Vwce
|
APN |
19 |
10,625,858 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02656:Vwce
|
APN |
19 |
10,641,716 (GRCm39) |
missense |
probably benign |
|
IGL02884:Vwce
|
APN |
19 |
10,623,943 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02973:Vwce
|
APN |
19 |
10,632,764 (GRCm39) |
nonsense |
probably null |
|
IGL03038:Vwce
|
APN |
19 |
10,624,035 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03329:Vwce
|
APN |
19 |
10,637,360 (GRCm39) |
missense |
possibly damaging |
0.73 |
PIT4403001:Vwce
|
UTSW |
19 |
10,615,461 (GRCm39) |
missense |
possibly damaging |
0.53 |
PIT4431001:Vwce
|
UTSW |
19 |
10,641,946 (GRCm39) |
missense |
possibly damaging |
0.53 |
PIT4519001:Vwce
|
UTSW |
19 |
10,641,946 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0042:Vwce
|
UTSW |
19 |
10,624,177 (GRCm39) |
missense |
probably benign |
|
R0081:Vwce
|
UTSW |
19 |
10,641,453 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0142:Vwce
|
UTSW |
19 |
10,641,976 (GRCm39) |
missense |
probably damaging |
0.97 |
R0165:Vwce
|
UTSW |
19 |
10,637,337 (GRCm39) |
splice site |
probably benign |
|
R0948:Vwce
|
UTSW |
19 |
10,630,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R1053:Vwce
|
UTSW |
19 |
10,641,463 (GRCm39) |
missense |
probably benign |
0.18 |
R1623:Vwce
|
UTSW |
19 |
10,624,108 (GRCm39) |
nonsense |
probably null |
|
R1672:Vwce
|
UTSW |
19 |
10,630,459 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1882:Vwce
|
UTSW |
19 |
10,615,520 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3849:Vwce
|
UTSW |
19 |
10,624,269 (GRCm39) |
missense |
probably damaging |
0.97 |
R4292:Vwce
|
UTSW |
19 |
10,636,996 (GRCm39) |
missense |
probably benign |
0.00 |
R4293:Vwce
|
UTSW |
19 |
10,636,996 (GRCm39) |
missense |
probably benign |
0.00 |
R4531:Vwce
|
UTSW |
19 |
10,641,710 (GRCm39) |
missense |
probably benign |
0.01 |
R4678:Vwce
|
UTSW |
19 |
10,642,012 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4720:Vwce
|
UTSW |
19 |
10,625,831 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4737:Vwce
|
UTSW |
19 |
10,627,943 (GRCm39) |
missense |
probably benign |
0.33 |
R4864:Vwce
|
UTSW |
19 |
10,628,000 (GRCm39) |
missense |
probably benign |
0.01 |
R4916:Vwce
|
UTSW |
19 |
10,624,243 (GRCm39) |
missense |
probably damaging |
0.98 |
R4939:Vwce
|
UTSW |
19 |
10,622,414 (GRCm39) |
missense |
probably damaging |
0.98 |
R5605:Vwce
|
UTSW |
19 |
10,635,402 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5735:Vwce
|
UTSW |
19 |
10,624,431 (GRCm39) |
missense |
probably benign |
0.08 |
R5780:Vwce
|
UTSW |
19 |
10,627,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R6158:Vwce
|
UTSW |
19 |
10,621,585 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6383:Vwce
|
UTSW |
19 |
10,636,956 (GRCm39) |
nonsense |
probably null |
|
R6920:Vwce
|
UTSW |
19 |
10,642,057 (GRCm39) |
missense |
probably benign |
|
R7201:Vwce
|
UTSW |
19 |
10,615,479 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7276:Vwce
|
UTSW |
19 |
10,641,538 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7423:Vwce
|
UTSW |
19 |
10,641,704 (GRCm39) |
missense |
probably benign |
0.02 |
R7474:Vwce
|
UTSW |
19 |
10,624,305 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7843:Vwce
|
UTSW |
19 |
10,641,647 (GRCm39) |
missense |
probably benign |
0.01 |
R8254:Vwce
|
UTSW |
19 |
10,627,938 (GRCm39) |
missense |
probably damaging |
0.98 |
R8782:Vwce
|
UTSW |
19 |
10,615,491 (GRCm39) |
missense |
probably benign |
0.33 |
R9154:Vwce
|
UTSW |
19 |
10,625,850 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9369:Vwce
|
UTSW |
19 |
10,624,061 (GRCm39) |
missense |
probably benign |
0.04 |
R9458:Vwce
|
UTSW |
19 |
10,631,688 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9664:Vwce
|
UTSW |
19 |
10,615,481 (GRCm39) |
missense |
probably benign |
0.33 |
RF020:Vwce
|
UTSW |
19 |
10,630,449 (GRCm39) |
missense |
probably damaging |
1.00 |
X0018:Vwce
|
UTSW |
19 |
10,634,026 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1177:Vwce
|
UTSW |
19 |
10,624,227 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATCTATCCCCAGAATGGCTCAC -3'
(R):5'- GCTGTCTGAGTCCCAAAGGTTGAAG -3'
Sequencing Primer
(F):5'- ATGGCTCACTTCAACTAGGG -3'
(R):5'- TCCCTGGAATGGCTGGAG -3'
|
Posted On |
2014-04-13 |